Proportion of subjects with changes from baseline in thyroid function tests that exceed the available literature-reported reference change values for these parameters (ca. >60% for TSH and >30% for T4; [Chaler et al 2012])

Proportion of subjects with abnormal thyroid function tests at each time point.

To perform molecular analysis to determine the molecular defects in the known CDG genes, search for new CDG-causing genes, and collect samples to create a library of biologic specimens from subjects with these disorders for related research.

100

All

1 Year to 80 Years (Child, Adult, Older Adult)

NCT02089789

14007114-HG-0071

March 7, 2014

December 1, 2023

December 1, 2023

March 18, 2014

January 18, 2019

National Institutes of Health Clinical Center, 9000 Rockville PikeBethesda, Maryland, United States